Pompe disease


What is the usual abbreviation for Pompe disease?

Pompe disease can be abbreviated as PD and this includes the forms of Pompe disease in infants as well as Pompe disease in children and adults. It may sometimes be abbreviated based on whether symptoms start in newborns (Infantile Onset Pompe Disease or IOPD) or after one year of age (Late Onset Pompe Disease or LOPD). Symptoms are usually different in IOPD than in LOPD. In IOPD, babies are born with very little muscle function and large hearts that do not work as well as they should (cardiomyopathy) because of excess glycogen in the muscle tissue. In LOPD, symptoms include muscle weakness that gets worse over time and breathing problems, but usually there is no cardiomyopathy. As the initials "PD" can stand for many different diseases, always look for a sentence that says Pompe disease is being shortened to PD when reading articles, webpages, or other documents.

Leslie, N., MD, & Tinkle, B. T., MD, PhD. (2007, August 31). Glycogen Storage Disease Type II (Pompe Disease) Synonyms: Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, GAA Deficiency, GSD II, Glycogenosis Type II. Retrieved February 26, 2016, from http://www.ncbi.nlm.nih.gov/books/NBK1261/

Pompe Community: Signs & Symptoms https://www.pompe.com/en/patients/signs-symptoms.aspx

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